..However, involvement of other sites (e.g., intertriginous area) and generalized involvement have been recently recognized. We report here a patient with parvovirus-associated petechiae and cephalhematoma...

Aberrations of NEGR1 on 1p31 and MYEOV on 11q13 in neuroblastoma

Junko TakitaDepartment of Cell Therapy and Transplantation, Graduate School of Medicine, University of Tokyo, Tokyo, JapanCancer Sci 102:1645-50. 2011

..In addition, the findings suggest a possible prognostic value for NEGR1 in neuroblastoma...

Acute megakaryoblastic leukemia in a child with the MLL-AF4 fusion gene

..To our knowledge, MLL-AF4 as well as t(4;11)(q21:q23) has not been reported in adult and childhood AMKL. Thus, our case provides new insight into the molecular mechanisms of MLL-AF4-associated leukemia...

Mutation and expression analyses of the MET and CDKN2A genes in rhabdomyosarcoma with emphasis on MET overexpression

..13 to 13q32.3 and involving the RB1 gene. This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q...

Hepatoblastoma in a patient with sotos syndrome

Motohiro KatoDepartment of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, JapanJ Pediatr 155:937-9. 2009

..Genome-wide analysis of copy number alterations showed a gain of chromosome 2, uniparental disomy of 18q, and microdeletion of 5q35...

Characterization of genetic lesions in rhabdomyosarcoma using a high-density single nucleotide polymorphism array

Riki NishimuraDepartment of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, JapanCancer Sci 104:856-64. 2013

..These findings enhance our understanding of the genetic mechanisms underlying RMS pathogenesis and support further studies for therapeutic development of RMS. ..

Ectopic neuroblastoma in monozygotic twins with different ages of onset: possible twin-to-twin metastasis in utero with distinct genetic alterations after birth

Takeshi TaketaniDivision of Blood Transfusion, Shimane University Hospital Department of Pediatrics Department of Digestive and General Surgery, Shimane University School of Medicine Department of Organ Pathology, Shimane University Faculty of Medicine, Shimane Department of Cell Therapy and Transplantation Medicine, Pediatrics Cancer Genomics Project Cancer Genomics Project, Graduate School of Medicine, University of Tokyo, Tokyo Division of Pediatrics and Perinatology, Tottori University School of Medicine Division of Molecular Pathology, Tottori University Faculty of Medicine, Tottori, JapanJ Pediatr Hematol Oncol 36:166-8. 2014

..The pathogenesis of this NB involved a premalignant stage of NB during the fetal development and subsequent molecular alterations after birth, resulting in NBs that were phenotypically similar but genetically different. ..

..Considering that the MLL-CBP fusion gene is also found almost exclusively in therapy-related leukemia, the association of MLL-p300 and MLL-CBP with therapy-related leukemia rather than de novo leukemia is thereby suggested...

..Mutations in the ATP6V1B1 and the ATP6V0A4 genes cause primary autosomal-recessive distal renal tubular acidosis (dRTA). Large deletions of either gene in patients with dRTA have not been described...

..These results suggest that AML1 mutations in pediatric hematologic malignancies are infrequent, but are possibly related to AML-M0, acquired trisomy 21, and leukemic transformation. These patients may have a poor clinical outcome...

Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma

..3% ± 2.5% with oral-BU (P = .51). Furthermore, multivariate analysis showed no significant survival advantage with iv-BU. In conclusion, iv-BU failed to show a significant survival advantage in children with acute leukemia...

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus

Mayu ShinoharaDepartment of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, JapanNeurology 80:1571-6. 2013

..However, its pathogenesis remains unclear. In this study, we clarified that genetic variation in the adenosine A2A receptor (ADORA2A), whose activation is involved in excitotoxicity, may be a predisposing factor of AESD...

..With the association of splenic lesion and lymphadenopathy, the imaging findings were considered indicative of a haematological disorder...

A case with sacrococcygeal primitive myxoid mesenchymal tumor of infancy: a case report and review of the literature

Atsuro SaitoDepartments of Pediatrics Radiology Organ Pathology, Shimane University Faculty of Medicine Division of Blood Transfusion, Shimane University Hospital Department of Digestive and General Surgery, Shimane University School of Medicine, Shimane Department of Cell Therapy and Transplantation Medicine, Graduate School of Medicine, University of Tokyo, Tokyo, JapanJ Pediatr Hematol Oncol 35:e280-2. 2013

..A diagnosis of primitive myxoid mesenchymal tumor of infancy should be considered in cases of soft tissue tumors in infants that show prominent vascularity but little contrast enhancement on MRI or CT. ..

Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies

..We did not find any non-sense mutations although 5 polymorphisms of these genes were found. This constellation of findings may represent a new entity of congenital combined pituitary hormone deficiency...

Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors